| Entrez Gene ID | 2934 |
|---|---|
| Official Gene Symbol | GSN (GeneCards) |
| Full name | gelsolin |
| Location | 9q33.2 |
| Other ids | Vega : OTTHUMG00000020584 MIM : 137350 HGNC : HGNC:4620 Ensembl : ENSG00000148180 |
| Other names | ADF, AGEL |
| Summary | The protein encoded by this gene binds to the "plus" ends of actin monomers and filaments to prevent monomer exchange. The encoded calcium-regulated protein functions in both assembly and disassembly of actin filaments. Defects in this gene are a cause of familial amyloidosis Finnish type (FAF). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 29456 | 2934 | GSN | 9 | 124073052 | 124073052 | Autism Spectrum Disorders | MiSeq |